Allele Registry

Canonical Allele Identifier: PA2830149777

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

32193

ClinVar RCV:

RCV003764592

ClinVar Variation:

17154

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Leu1520Arg	CA257718 NM_057167.4:c.4559T>G